Zobrazeno 1 - 10
of 139
pro vyhledávání: '"Dennis Dooijes"'
Autor:
Fernando de Frutos, Juan Pablo Ochoa, Gregory Webster, Mark Jansen, Paloma Remior, Torsten B. Rasmussen, Maria Sabater‐Molina, Roberto Barriales‐Villa, Francesca Girolami, Sergi Cesar, M. Eugenia Fuentes‐Cañamero, Reyes Alvarez García‐Rovés, Karim Wahbi, Javier Limeres, Milos Kubanek, Martijn G. Slieker, Georgia Sarquella‐Brugada, Dominic J. Abrams, Dennis Dooijes, Fernando Domínguez, Pablo Garcia‐Pavia
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Background Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and
Externí odkaz:
https://doaj.org/article/59e75968bc6945bab7fc180c951c9b2d
Autor:
Julia E. Niskanen, Åsa Ohlsson, Ingrid Ljungvall, Michaela Drögemüller, Robert F. Ernst, Dennis Dooijes, Hanneke W. M. van Deutekom, J. Peter van Tintelen, Christian J. B. Snijders Blok, Marion van Vugt, Jessica van Setten, Folkert W. Asselbergs, Aleksandra Domanjko Petrič, Milla Salonen, Sruthi Hundi, Matthias Hörtenhuber, DoGA consortium, Juha Kere, W. Glen Pyle, Jonas Donner, Alex V. Postma, Tosso Leeb, Göran Andersson, Marjo K. Hytönen, Jens Häggström, Maria Wiberg, Jana Friederich, Jenny Eberhard, Magdalena Harakalova, Frank G. van Steenbeek, Gerhard Wess, Hannes Lohi
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-21 (2023)
Abstract Background Dilated cardiomyopathy (DCM) is a life-threatening heart disease and a common cause of heart failure due to systolic dysfunction and subsequent left or biventricular dilatation. A significant number of cases have a genetic etiolog
Externí odkaz:
https://doaj.org/article/49a1dbcf15a6421cbf422ecc2a464ea9
Autor:
Lian Y. Rekker, Steven A. Muller, Alessio Gasperetti, Mimount Bourfiss, Marish I.F.J. Oerlemans, Maarten J. Cramer, Stefan L. Zimmerman, Dennis Dooijes, Hanke Schalkx, Pim van der Harst, Cynthia A. James, J. Peter van Tintelen, Marco Guglielmo, Birgitta K. Velthuis, Anneline S.J.M. te Riele
Publikováno v:
Journal of Cardiovascular Magnetic Resonance, Vol 26, Iss 2, Pp 101059- (2024)
ABSTRACT: Background: While late gadolinium enhancement (LGE) is proposed as a diagnostic criterion for arrhythmogenic right ventricular cardiomyopathy (ARVC), the potential of LGE to distinguish ARVC from differentials remains unknown. We aimed to a
Externí odkaz:
https://doaj.org/article/6c8027e8842f437fb6177ca748f9a36a
Autor:
Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 4031 (2023)
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-po
Externí odkaz:
https://doaj.org/article/e223c94791014e57a9ae7b833ca8be81
Autor:
Renske I Wadman, Marloes Stam, Marc D Jansen, Yana van der Weegen, Camiel A Wijngaarde, Oliver Harschnitz, Peter Sodaar, Kees P J Braun, Dennis Dooijes, Henny H Lemmink, Leonard H van den Berg, W Ludo van der Pol
Publikováno v:
PLoS ONE, Vol 11, Iss 11, p e0167087 (2016)
Clinical trials to test safety and efficacy of drugs for patients with spinal muscular atrophy (SMA) are currently underway. Biomarkers that document treatment-induced effects are needed because disease progression in childhood forms of SMA is slow a
Externí odkaz:
https://doaj.org/article/e99f54abe7b64ae79f3fd84102bb4fb4
Autor:
Anna Duarri, Esther A R Nibbeling, Michiel R Fokkens, Michel Meijer, Melissa Boerrigter, Corien C Verschuuren-Bemelmans, Berry P H Kremer, Bart P van de Warrenburg, Dennis Dooijes, Erik Boddeke, Richard J Sinke, Dineke S Verbeek
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0116599 (2015)
Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3. To identify novel pathogenic SCA13 mutations in KCNC3 and to ga
Externí odkaz:
https://doaj.org/article/b2f8101955e14ba6b38e6893d817ef18
Autor:
Marka van Blitterswijk, Lotte Vlam, Michael A van Es, W-Ludo van der Pol, Eric A M Hennekam, Dennis Dooijes, Helenius J Schelhaas, Anneke J van der Kooi, Marianne de Visser, Jan H Veldink, Leonard H van den Berg
Publikováno v:
PLoS ONE, Vol 7, Iss 11, p e48983 (2012)
Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs bet
Externí odkaz:
https://doaj.org/article/6e32bd40dfad40c4a07d72c6875ecfde
Autor:
Robert W. Roudijk, Lisa Verheul, Laurens P. Bosman, Mimount Bourfiss, Johannes M.P.J. Breur, Martijn G. Slieker, Andreas C. Blank, Dennis Dooijes, Jeroen F. van der Heijden, Freek van den Heuvel, Sally-Ann Clur, Floris E.A. Udink ten Cate, Maarten P. van den Berg, Arthur A.M. Wilde, Folkert W. Asselbergs, J. Peter van Tintelen, Anneline S.J.M. te Riele
Publikováno v:
Roudijk, R W, Verheul, L, Bosman, L P, Bourfiss, M, Breur, J M P J, Slieker, M G, Blank, A C, Dooijes, D, van der Heijden, J F, van den Heuvel, F, Clur, S-A, Udink ten Cate, F E A, van den Berg, M P, Wilde, A A M, Asselbergs, F W, Peter van Tintelen, J & te Riele, A S J M 2022, ' Clinical Characteristics and Follow-Up of Pediatric-Onset Arrhythmogenic Right Ventricular Cardiomyopathy ', JACC: Clinical Electrophysiology, vol. 8, no. 3, pp. 306-318 . https://doi.org/10.1016/j.jacep.2021.09.001
JACC: Clinical Electrophysiology, 8(3), 306-318. Elsevier USA
JACC. Clinical electrophysiology, 8(3), 306-318. Elsevier
JACC. Clinical Electrophysiology, 8, 306-318
JACC. Clinical Electrophysiology, 8, 3, pp. 306-318
JACC: Clinical Electrophysiology, 8(3), 306-318. Elsevier USA
JACC. Clinical electrophysiology, 8(3), 306-318. Elsevier
JACC. Clinical Electrophysiology, 8, 306-318
JACC. Clinical Electrophysiology, 8, 3, pp. 306-318
Objectives: The goal of this study was to describe characteristics, cascade screening results, and predictors of adverse outcome in pediatric-onset arrhythmogenic right ventricular cardiomyopathy (ARVC). Background: Although ARVC is increasingly reco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e869353bfb8bda89957d2e6400c1a9d
https://doi.org/10.1016/j.jacep.2021.09.001
https://doi.org/10.1016/j.jacep.2021.09.001
Autor:
Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro-Peñalver, Annette Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Méndez, Rebeca Lorca, Job A.J. Verdonschot, Pablo Elpidio García-Granja, Zofia Bilinska, Diane Fatkin, M. Eugenia Fuentes-Cañamero, José M. García-Pinilla, María I. García-Álvarez, Francesca Girolami, Roberto Barriales-Villa, Carles Díez-López, Luis R. Lopes, Karim Wahbi, Ana García-Álvarez, Ibon Rodríguez-Sánchez, Javier Rekondo-Olaetxea, José F. Rodríguez-Palomares, María Gallego-Delgado, Benjamin Meder, Milos Kubanek, Frederikke G. Hansen, María Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Luis Ruiz-Guerrero, Georgia Sarquella-Brugada, Alberto José Perez-Perez, Francisco José Bermúdez-Jiménez, Tomas Ripoll-Vera, Torsten Bloch Rasmussen, Mark Jansen, Maria Sabater-Molina, Perry M. Elliot, Pablo Garcia-Pavia, Eva Cabrera-Romero, Marta Cobo-Marcos, Luis Escobar-Lopez, Fernando Domínguez, Esther González-López, Juan Ramón Gimeno-Blanes, Dennis Dooijes, Bernabé López Ledesma, Inés Roche Fortea, Javier Bermejo, Maria Angeles Espinosa, Ana Isabel Fernández, Silvia Vilches, Cristina Gómez, Juan Gómez, Eliecer Coto, José Julián Rodríguez Reguero, S.R.B. Heymans, H.G. Brunner, Javier López-Díaz, Grażyna Truszkowska, Rafal Ploski, Przemysław Chmielewski, Renee Johnson, Ainhoa Robles-Mezcua, Arancha Díaz-Expósito, Alejandro I. Pérez-Cabeza, Clara Jiménez-Rubio, Vicente Climent Payá, Silvia Favilli, Petros Syrris, Douglas Cannie, Clarisse Billon, Angela Lopez-Sainz, Margarita Calvo, Ángela Cacicedo Fernández de Bobadilla, Jose Juan Onaindia-Gandarias, Larraitz Gaztañaga-Arantzamendi, Estibaliz Zamarreño-Golvano, Javier Limeres, Laura Gutiérrez-García, Eduardo Villacorta, Jan Haas, Alice Krebsova, Jens Mogensen, Sergi Cesar, Oscar Campuzano, Raúl Franco Gutiérrez, Jorge Alvarez-Rubio, David Cremer-Luengos, Guido Antoniutti, Fiama Caimi-Martinez, Rosa Macías, Juan Jiménez-Jáimez, María Luisa Peña-Peña, Salvador Lucas Díez-Aja López, Tania Pino Acereda, Blanca Arnáez Corada, Jesús Piqueras-Flores, Martin Negreira-Caamaño, Jorge Martinez-del Río, María Victoria Mogollón Jiménez, Elena Villanueva, José Luis Gonzáles, Adrián Fernández, Ulises Toscanini, Lilian E. Favaloro, Carlota Hernández Díez
Publikováno v:
Journal of the American College of Cardiology, 80, 1447-1461
Journal of the American College of Cardiology, 80, 15, pp. 1447-1461
Journal of the American College of Cardiology, 80(15), 1447-1461. Elsevier Science
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus
de Frutos, F, Ochoa, J P, Navarro-Peñalver, M, Baas, A, Bjerre, J V, Zorio, E, Méndez, I, Lorca, R, Verdonschot, J A J, García-Granja, P E, Bilinska, Z, Fatkin, D, Fuentes-Cañamero, M E, García-Pinilla, J M, García-Álvarez, M I, Girolami, F, Barriales-Villa, R, Díez-López, C, Lopes, L R, Wahbi, K, García-Álvarez, A, Rodríguez-Sánchez, I, Rekondo-Olaetxea, J, Rodríguez-Palomares, J F, Gallego-Delgado, M, Meder, B, Kubanek, M, Hansen, F G, Restrepo-Córdoba, M A, Palomino-Doza, J, Ruiz-Guerrero, L, Sarquella-Brugada, G, Perez-Perez, A J, Bermúdez-Jiménez, F J, Ripoll-Vera, T, Rasmussen, T B, Jansen, M, Sabater-Molina, M, Elliot, P M, Garcia-Pavia, P & European Genetic Cardiomyopathies Initiative Investigators 2022, ' Natural History of MYH7-Related Dilated Cardiomyopathy ', Journal of the American College of Cardiology, vol. 80, no. 15, pp. 1447-1461 . https://doi.org/10.1016/j.jacc.2022.07.023
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Journal of the American College of Cardiology, 80, 15, pp. 1447-1461
Journal of the American College of Cardiology, 80(15), 1447-1461. Elsevier Science
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus
de Frutos, F, Ochoa, J P, Navarro-Peñalver, M, Baas, A, Bjerre, J V, Zorio, E, Méndez, I, Lorca, R, Verdonschot, J A J, García-Granja, P E, Bilinska, Z, Fatkin, D, Fuentes-Cañamero, M E, García-Pinilla, J M, García-Álvarez, M I, Girolami, F, Barriales-Villa, R, Díez-López, C, Lopes, L R, Wahbi, K, García-Álvarez, A, Rodríguez-Sánchez, I, Rekondo-Olaetxea, J, Rodríguez-Palomares, J F, Gallego-Delgado, M, Meder, B, Kubanek, M, Hansen, F G, Restrepo-Córdoba, M A, Palomino-Doza, J, Ruiz-Guerrero, L, Sarquella-Brugada, G, Perez-Perez, A J, Bermúdez-Jiménez, F J, Ripoll-Vera, T, Rasmussen, T B, Jansen, M, Sabater-Molina, M, Elliot, P M, Garcia-Pavia, P & European Genetic Cardiomyopathies Initiative Investigators 2022, ' Natural History of MYH7-Related Dilated Cardiomyopathy ', Journal of the American College of Cardiology, vol. 80, no. 15, pp. 1447-1461 . https://doi.org/10.1016/j.jacc.2022.07.023
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Instituto de Salud Carlos III (ISCIII), European Regional Development Fund/European Social Fund "A way to make Europe"/" Investing in your future" [PI18/0004, PI20/0320, PT17/0015/0043]; ISCIII; MCIN; Pro-CNIC Foundation; Severo Ochoa Centers of Exce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d05e32d5c9a7c19acdd82bf9eaf00a
https://doi.org/10.1016/j.jacc.2022.07.023
https://doi.org/10.1016/j.jacc.2022.07.023
Autor:
Gijs H.P. Tazelaar, Paul J. Hop, Meinie Seelen, Joke J.F.A. van Vugt, Wouter van Rheenen, Lindy Kool, Kristel R. van Eijk, Marleen Gijzen, Dennis Dooijes, Matthieu Moisse, Andrea Calvo, Cristina Moglia, Maura Brunetti, Antonio Canosa, Angelica Nordin, Jesus S. Mora Pardina, John Ravits, Ammar Al-Chalabi, Adriano Chio, Russell L. McLaughlin, Orla Hardiman, Philip Van Damme, Mamede de Carvalho, Christoph Neuwirth, Markus Weber, Peter M Andersen, Leonard H. van den Berg, Jan H. Veldink, Michael A. van Es
© 2022 The Author(s). Published by Elsevier Inc. This is an open access article under the CC BY license.
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases a
Amyotrophic lateral sclerosis is a heterogeneous, fatal neurodegenerative disease, characterized by motor neuron loss and in 50% of cases a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e136e7aceb30a75736cbb9b44899449e
https://hdl.handle.net/10451/55900
https://hdl.handle.net/10451/55900
